Maternal Isodisomy for Chromosome 9 Causing Homozygosity for a NovelFOXE1Mutation in Syndromic Congenital Hypothyroidism-Reference-Cited by-同舟云学术

Maternal Isodisomy for Chromosome 9 Causing Homozygosity for a NovelFOXE1Mutation in Syndromic Congenital Hypothyroidism

Published:2010-08-01 Issue:8 Volume:95 Page:4031-4036
ISSN:0021-972X
Container-title:The Journal of Clinical Endocrinology & Metabolism
language:en
Short-container-title:

Author:

Castanet Mireille¹²,Mallya Uma³,Agostini Maura¹,Schoenmakers Erik¹,Mitchell Catherine¹,Demuth Stephanie⁴,Raymond F. Lucy³,Schwabe John⁵,Gurnell Mark¹,Chatterjee V. Krishna¹

Affiliation:

1. Institute of Metabolic Science and Department of Medicine (M.C., M.A., E.S., C.M., M.G., V.K.C.) University of Cambridge, Addenbrooke’s Hospital, Cambridge CB2 0QQ, United Kingdom;

2. Institut National de la Santé et de la Recherche Médicale U845 and Pediatric Endocrinology and Gynecology (M.C.), Necker-Enfants Malades Hospital, Assistance Publique des Hopitaux and Université Paris Descartes, 75015, Paris, France;

3. Cambridge Institute for Medical Research (U.M., F.L.R.), University of Cambridge, Addenbrooke’s Hospital, Cambridge CB2 0QQ, United Kingdom;

4. Fachärztin fûr Humangenetik (S.D.), Genetische Beratungsstelle, 99084 Erfurt, Germany;

5. Department of Biochemistry (J.S.), University of Leicester, Leicester LE1 7RH, United Kingdom

Publisher

The Endocrine Society

Subject

Biochemistry, medical,Clinical Biochemistry,Endocrinology,Biochemistry,Endocrinology, Diabetes and Metabolism

Link

http://academic.oup.com/jcem/article-pdf/95/8/4031/9069751/jcem4031.pdf

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5. Insulin and insulin-like growth factor I regulate a thyroid-specific nuclear protein that binds to the thyroglobulin promoter.;Santisteban;Mol Endocrinol,1992

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